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| Ataxia and cerebellar anomalies - narrow panel v3.30 | OGDHL | Eleanor Williams Tag Q3_22_rating was removed from gene: OGDHL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | OGDHL | Eleanor Williams reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | OGDHL |
Eleanor Williams Source Expert Review Green was added to OGDHL. Source NHS GMS was added to OGDHL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v2.300 | OGDHL | Arina Puzriakova Entity copied from Intellectual disability v3.1644 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.300 | OGDHL |
Arina Puzriakova gene: OGDHL was added gene: OGDHL was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber,Literature Q3_22_rating tags were added to gene: OGDHL. Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGDHL were set to 28017472; 34800363 Phenotypes for gene: OGDHL were set to Yoon-Bellen neurodevelopmental syndrome, OMIM:619701 |
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